| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11750175G>A | CA172114436 | GATA4 | c.848G>A (p.Arg283His) c.851G>A (p.Arg284His) c.230G>A (p.Arg77His) c.845G>A (p.Arg282His) c.165+1090G>A (n.165+1090G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11750175G>C | CA370313030 | GATA4 | c.848G>C (p.Arg283Pro) c.851G>C (p.Arg284Pro) c.230G>C (p.Arg77Pro) c.845G>C (p.Arg282Pro) c.165+1090G>C (n.165+1090G>C) | |
| 8 | g.11750175G= | CA1764081191 | GATA4 | c.848G= (p.Arg283=) c.851G= (p.Arg284=) c.230G= (p.Arg77=) c.845G= (p.Arg282=) c.165+1090G= (n.165+1090G=) | |
| 8 | g.11750175G>T | CA370313031 | GATA4 | c.848G>T (p.Arg283Leu) c.851G>T (p.Arg284Leu) c.230G>T (p.Arg77Leu) c.845G>T (p.Arg282Leu) c.165+1090G>T (n.165+1090G>T) | |
| 8 | g.11750176C>A | CA459311277 | GATA4 | c.849C>A (p.Arg283=) c.852C>A (p.Arg284=) c.231C>A (p.Arg77=) c.846C>A (p.Arg282=) c.165+1091C>A (n.165+1091C>A) | gnomAD v4 |
| 8 | g.11750176C= | CA1764081194 | GATA4 | c.849C= (p.Arg283=) c.852C= (p.Arg284=) c.231C= (p.Arg77=) c.846C= (p.Arg282=) c.165+1091C= (n.165+1091C=) | |
| 8 | g.11750176C>G | CA4630719 | GATA4 | c.849C>G (p.Arg283=) c.852C>G (p.Arg284=) c.231C>G (p.Arg77=) c.846C>G (p.Arg282=) c.165+1091C>G (n.165+1091C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11750176C>T | CA459311275 | GATA4 | c.849C>T (p.Arg283=) c.852C>T (p.Arg284=) c.231C>T (p.Arg77=) c.846C>T (p.Arg282=) c.165+1091C>T (n.165+1091C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11750177C>A | CA370313032 | GATA4 | c.850C>A (p.Arg284Ser) c.853C>A (p.Arg285Ser) c.232C>A (p.Arg78Ser) c.847C>A (p.Arg283Ser) c.165+1092C>A (n.165+1092C>A) | dbSNP |
| 8 | g.11750177C>G | CA370313033 | GATA4 | c.850C>G (p.Arg284Gly) c.853C>G (p.Arg285Gly) c.232C>G (p.Arg78Gly) c.847C>G (p.Arg283Gly) c.165+1092C>G (n.165+1092C>G) | |
| 8 | g.11750177C>T | CA370313034 | GATA4 | c.850C>T (p.Arg284Cys) c.853C>T (p.Arg285Cys) c.232C>T (p.Arg78Cys) c.847C>T (p.Arg283Cys) c.165+1092C>T (n.165+1092C>T) | ClinVar |
| 8 | g.11750178G>A | CA370313035 | GATA4 | c.851G>A (p.Arg284His) c.854G>A (p.Arg285His) c.233G>A (p.Arg78His) c.848G>A (p.Arg283His) c.165+1093G>A (n.165+1093G>A) | ClinVar dbSNP |
| 8 | g.11750178G>C | CA370313036 | GATA4 | c.851G>C (p.Arg284Pro) c.854G>C (p.Arg285Pro) c.233G>C (p.Arg78Pro) c.848G>C (p.Arg283Pro) c.165+1093G>C (n.165+1093G>C) | |
| 8 | g.11750178G>T | CA370313037 | GATA4 | c.851G>T (p.Arg284Leu) c.854G>T (p.Arg285Leu) c.233G>T (p.Arg78Leu) c.848G>T (p.Arg283Leu) c.165+1093G>T (n.165+1093G>T) | |
| 8 | g.11750178_11750180del | CA2573102939 | GATA4 | c.851_853del (p.Arg284_Asn285delinsHis) c.854_856del (p.Arg285_Asn286delinsHis) c.233_235del (p.Arg78_Asn79delinsHis) c.848_850del (p.Arg283_Asn284delinsHis) c.165+1093_165+1095del (n.165+1093_165+1095del) | ClinVar |
| 8 | g.11750179C>A | CA459311283 | GATA4 | c.852C>A (p.Arg284=) c.855C>A (p.Arg285=) c.234C>A (p.Arg78=) c.849C>A (p.Arg283=) c.165+1094C>A (n.165+1094C>A) | |
| 8 | g.11750179C= | CA1764081197 | GATA4 | c.852C= (p.Arg284=) c.855C= (p.Arg285=) c.234C= (p.Arg78=) c.849C= (p.Arg283=) c.165+1094C= (n.165+1094C=) | |
| 8 | g.11750179C>G | CA459311285 | GATA4 | c.852C>G (p.Arg284=) c.855C>G (p.Arg285=) c.234C>G (p.Arg78=) c.849C>G (p.Arg283=) c.165+1094C>G (n.165+1094C>G) | |
| 8 | g.11750179C>T | CA4630720 | GATA4 | c.852C>T (p.Arg284=) c.855C>T (p.Arg285=) c.234C>T (p.Arg78=) c.849C>T (p.Arg283=) c.165+1094C>T (n.165+1094C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11750180A>C | CA370313039 | GATA4 | c.853A>C (p.Asn285His) c.856A>C (p.Asn286His) c.235A>C (p.Asn79His) c.850A>C (p.Asn284His) c.165+1095A>C (n.165+1095A>C) | |
| 8 | g.11750180A>G | CA370313040 | GATA4 | c.853A>G (p.Asn285Asp) c.856A>G (p.Asn286Asp) c.235A>G (p.Asn79Asp) c.850A>G (p.Asn284Asp) c.165+1095A>G (n.165+1095A>G) | |
| 8 | g.11750180A>T | CA370313038 | GATA4 | c.853A>T (p.Asn285Tyr) c.856A>T (p.Asn286Tyr) c.235A>T (p.Asn79Tyr) c.850A>T (p.Asn284Tyr) c.165+1095A>T (n.165+1095A>T) | |
| 8 | g.11750181A>C | CA370313041 | GATA4 | c.854A>C (p.Asn285Thr) c.857A>C (p.Asn286Thr) c.236A>C (p.Asn79Thr) c.851A>C (p.Asn284Thr) c.165+1096A>C (n.165+1096A>C) | |
| 8 | g.11750181A>G | CA370313042 | GATA4 | c.854A>G (p.Asn285Ser) c.857A>G (p.Asn286Ser) c.236A>G (p.Asn79Ser) c.851A>G (p.Asn284Ser) c.165+1096A>G (n.165+1096A>G) | |
| 8 | g.11750181A>T | CA370313043 | GATA4 | c.854A>T (p.Asn285Ile) c.857A>T (p.Asn286Ile) c.236A>T (p.Asn79Ile) c.851A>T (p.Asn284Ile) c.165+1096A>T (n.165+1096A>T) | |
| 8 | g.11750182T>A | CA370313044 | GATA4 | c.855T>A (p.Asn285Lys) c.858T>A (p.Asn286Lys) c.237T>A (p.Asn79Lys) c.852T>A (p.Asn284Lys) c.165+1097T>A (n.165+1097T>A) | |
| 8 | g.11750182T>C | CA4630721 | GATA4 | c.855T>C (p.Asn285=) c.858T>C (p.Asn286=) c.237T>C (p.Asn79=) c.852T>C (p.Asn284=) c.165+1097T>C (n.165+1097T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11750182T>G | CA370313045 | GATA4 | c.855T>G (p.Asn285Lys) c.858T>G (p.Asn286Lys) c.237T>G (p.Asn79Lys) c.852T>G (p.Asn284Lys) c.165+1097T>G (n.165+1097T>G) | |
| 8 | g.11750182T= | CA1764081200 | GATA4 | c.855T= (p.Asn285=) c.858T= (p.Asn286=) c.237T= (p.Asn79=) c.852T= (p.Asn284=) c.165+1097T= (n.165+1097T=) | |
| 8 | g.11750183G>A | CA370313046 | GATA4 | c.856G>A (p.Ala286Thr) c.859G>A (p.Ala287Thr) c.238G>A (p.Ala80Thr) c.853G>A (p.Ala285Thr) c.165+1098G>A (n.165+1098G>A) | |
| 8 | g.11750183G>C | CA370313047 | GATA4 | c.856G>C (p.Ala286Pro) c.859G>C (p.Ala287Pro) c.238G>C (p.Ala80Pro) c.853G>C (p.Ala285Pro) c.165+1098G>C (n.165+1098G>C) | |
| 8 | g.11750183G>T | CA370313048 | GATA4 | c.856G>T (p.Ala286Ser) c.859G>T (p.Ala287Ser) c.238G>T (p.Ala80Ser) c.853G>T (p.Ala285Ser) c.165+1098G>T (n.165+1098G>T) | |
| 8 | g.11750184C>A | CA370313049 | GATA4 | c.857C>A (p.Ala286Glu) c.860C>A (p.Ala287Glu) c.239C>A (p.Ala80Glu) c.854C>A (p.Ala285Glu) c.165+1099C>A (n.165+1099C>A) | gnomAD v4 |
| 8 | g.11750184C= | CA1764081203 | GATA4 | c.857C= (p.Ala286=) c.860C= (p.Ala287=) c.239C= (p.Ala80=) c.854C= (p.Ala285=) c.165+1099C= (n.165+1099C=) | |
| 8 | g.11750184C>G | CA370313050 | GATA4 | c.857C>G (p.Ala286Gly) c.860C>G (p.Ala287Gly) c.239C>G (p.Ala80Gly) c.854C>G (p.Ala285Gly) c.165+1099C>G (n.165+1099C>G) | |
| 8 | g.11750184C>T | CA4630722 | GATA4 | c.857C>T (p.Ala286Val) c.860C>T (p.Ala287Val) c.239C>T (p.Ala80Val) c.854C>T (p.Ala285Val) c.165+1099C>T (n.165+1099C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11750185G>A | CA4630723 | GATA4 | c.858G>A (p.Ala286=) c.861G>A (p.Ala287=) c.240G>A (p.Ala80=) c.855G>A (p.Ala285=) c.165+1100G>A (n.165+1100G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11750185G>C | CA459311301 | GATA4 | c.858G>C (p.Ala286=) c.861G>C (p.Ala287=) c.240G>C (p.Ala80=) c.855G>C (p.Ala285=) c.165+1100G>C (n.165+1100G>C) | |
| 8 | g.11750185G= | CA1764081210 | GATA4 | c.858G= (p.Ala286=) c.861G= (p.Ala287=) c.240G= (p.Ala80=) c.855G= (p.Ala285=) c.165+1100G= (n.165+1100G=) | |
| 8 | g.11750185G>T | CA459311303 | GATA4 | c.858G>T (p.Ala286=) c.861G>T (p.Ala287=) c.240G>T (p.Ala80=) c.855G>T (p.Ala285=) c.165+1100G>T (n.165+1100G>T) | gnomAD v4 |
| 8 | g.11750186G>A | CA370313053 | GATA4 | c.859G>A (p.Glu287Lys) c.862G>A (p.Glu288Lys) c.241G>A (p.Glu81Lys) c.856G>A (p.Glu286Lys) c.165+1101G>A (n.165+1101G>A) | |
| 8 | g.11750186G>C | CA370313052 | GATA4 | c.859G>C (p.Glu287Gln) c.862G>C (p.Glu288Gln) c.241G>C (p.Glu81Gln) c.856G>C (p.Glu286Gln) c.165+1101G>C (n.165+1101G>C) | |
| 8 | g.11750186G>T | CA370313051 | GATA4 | c.859G>T (p.Glu287Ter) c.862G>T (p.Glu288Ter) c.241G>T (p.Glu81Ter) c.856G>T (p.Glu286Ter) c.165+1101G>T (n.165+1101G>T) | |
| 8 | g.11750187A>C | CA370313054 | GATA4 | c.860A>C (p.Glu287Ala) c.863A>C (p.Glu288Ala) c.242A>C (p.Glu81Ala) c.857A>C (p.Glu286Ala) c.165+1102A>C (n.165+1102A>C) | |
| 8 | g.11750187A>G | CA370313055 | GATA4 | c.860A>G (p.Glu287Gly) c.863A>G (p.Glu288Gly) c.242A>G (p.Glu81Gly) c.857A>G (p.Glu286Gly) c.165+1102A>G (n.165+1102A>G) | |
| 8 | g.11750187A>T | CA370313056 | GATA4 | c.860A>T (p.Glu287Val) c.863A>T (p.Glu288Val) c.242A>T (p.Glu81Val) c.857A>T (p.Glu286Val) c.165+1102A>T (n.165+1102A>T) | |
| 8 | g.11750188G>A | CA459311311 | GATA4 | c.861G>A (p.Glu287=) c.864G>A (p.Glu288=) c.243G>A (p.Glu81=) c.858G>A (p.Glu286=) c.165+1103G>A (n.165+1103G>A) | |
| 8 | g.11750188G>C | CA370313057 | GATA4 | c.861G>C (p.Glu287Asp) c.864G>C (p.Glu288Asp) c.243G>C (p.Glu81Asp) c.858G>C (p.Glu286Asp) c.165+1103G>C (n.165+1103G>C) | |
| 8 | g.11750188G>T | CA370313058 | GATA4 | c.861G>T (p.Glu287Asp) c.864G>T (p.Glu288Asp) c.243G>T (p.Glu81Asp) c.858G>T (p.Glu286Asp) c.165+1103G>T (n.165+1103G>T) | |
| 8 | g.11750189G>A | CA370313059 | GATA4 | c.862G>A (p.Gly288Ser) c.865G>A (p.Gly289Ser) c.244G>A (p.Gly82Ser) c.859G>A (p.Gly287Ser) c.165+1104G>A (n.165+1104G>A) |